ClinVar Miner

Variants from Department of Laboratory Medicine, Yonsei University College of Medicine

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
22 85 2 0 0 109

Gene and significance breakdown #

Total genes and gene combinations: 72
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
SCN2A 1 6 0 7
STXBP1 1 6 0 7
CDKL5 1 3 0 4
SCN8A 0 4 0 4
BTK 2 1 0 3
GABRA1 0 3 0 3
ANK1 0 1 1 2
CHD2 0 2 0 2
DNM1 0 2 0 2
EIF2B3 0 2 0 2
FOXP1 2 0 0 2
GATA2 0 2 0 2
HCN1 0 2 0 2
IL2RG 0 2 0 2
IQSEC2 1 1 0 2
KCNA2 0 2 0 2
KCNB1 0 2 0 2
SCN1A 0 2 0 2
STAT3 1 1 0 2
TUBA1A 0 2 0 2
UNC13D 0 2 0 2
ADCY5 0 1 0 1
ARID1B 1 0 0 1
ATP1A3 0 1 0 1
CACNA1A, LOC126862864 0 1 0 1
CACNA1C 0 1 0 1
CACNA1H 0 1 0 1
COL4A1 0 1 0 1
DNM1, LOC113839516 0 1 0 1
DNM1L 0 1 0 1
DYNC1H1 0 1 0 1
EEF1A2 0 1 0 1
GABRB2 0 1 0 1
GABRG2 0 1 0 1
GPI 0 1 0 1
GRIN2B 0 1 0 1
GRIN2D 0 1 0 1
HNRNPK 1 0 0 1
HNRNPU 0 1 0 1
IL10RA 1 0 0 1
ISG15 0 1 0 1
KAT6A 0 1 0 1
KCNQ2 1 0 0 1
KIF1A 0 1 0 1
KRAS 0 1 0 1
LOC102724058, SCN1A 0 1 0 1
LOC126863253, UBA1 1 0 0 1
MBD5 0 1 0 1
MECP2 0 1 0 1
NRAS 0 1 0 1
OTUD7A 1 0 0 1
PAFAH1B1 0 1 0 1
PCDH19 1 0 0 1
PIEZO1 0 0 1 1
PRF1 1 0 0 1
PTEN 0 1 0 1
PURA 0 1 0 1
SETD1B 0 1 0 1
SH2D1A 1 0 0 1
SHANK2 0 1 0 1
SHANK3 1 0 0 1
SIN3A 0 1 0 1
SLC1A2 0 1 0 1
SLC6A1 0 1 0 1
SNHG14, UBE3A 1 0 0 1
SON 0 1 0 1
SPTB 0 1 0 1
STX1B 0 1 0 1
TET2 0 1 0 1
TSC2 1 0 0 1
ZBTB18 0 1 0 1
ZNF462 1 0 0 1

Condition and significance breakdown #

Total conditions: 70
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Condition pathogenic likely pathogenic uncertain significance total
Developmental and epileptic encephalopathy, 4 1 6 0 7
Developmental and epileptic encephalopathy, 11 0 5 0 5
Developmental and epileptic encephalopathy, 13 0 4 0 4
Developmental and epileptic encephalopathy, 2 1 3 0 4
Developmental and epileptic encephalopathy, 31 0 3 0 3
Hereditary spherocytosis 0 3 0 3
X-linked agammaglobulinemia 2 1 0 3
Autoimmune lymphoproliferative syndrome type 4 0 2 0 2
Developmental and epileptic encephalopathy 94 0 2 0 2
Developmental and epileptic encephalopathy, 24 0 2 0 2
Developmental and epileptic encephalopathy, 26 0 2 0 2
Developmental and epileptic encephalopathy, 32 0 2 0 2
Epilepsy, idiopathic generalized, susceptibility to, 13 0 2 0 2
Familial hemophagocytic lymphohistiocytosis 3 0 2 0 2
Hemolytic anemia 0 0 2 2
Intellectual disability, X-linked 1 1 1 0 2
Intellectual disability-severe speech delay-mild dysmorphism syndrome 2 0 0 2
Monocytopenia with susceptibility to infections 0 2 0 2
Non-syndromic intellectual disability 2 0 0 2
STAT3-related early-onset multisystem autoimmune disease 1 1 0 2
Severe myoclonic epilepsy in infancy 0 2 0 2
Tubulinopathy 0 2 0 2
Vanishing white matter disease 0 2 0 2
X-linked severe combined immunodeficiency 0 2 0 2
Alternating hemiplegia of childhood 2 0 1 0 1
Angelman syndrome 1 0 0 1
Au-Kline syndrome 1 0 0 1
Autism, susceptibility to, 17 0 1 0 1
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 0 1 0 1
Brain small vessel disease 1 with or without ocular anomalies 0 1 0 1
Coffin-Siris syndrome 1 1 0 0 1
Developmental and epileptic encephalopathy, 19 0 1 0 1
Developmental and epileptic encephalopathy, 33 0 1 0 1
Developmental and epileptic encephalopathy, 41 0 1 0 1
Developmental and epileptic encephalopathy, 42 0 1 0 1
Developmental and epileptic encephalopathy, 46 0 1 0 1
Developmental and epileptic encephalopathy, 54 0 1 0 1
Developmental and epileptic encephalopathy, 7 1 0 0 1
Developmental and epileptic encephalopathy, 74 0 1 0 1
Developmental and epileptic encephalopathy, 9 1 0 0 1
Dyskinesia with orofacial involvement, autosomal dominant 0 1 0 1
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 0 1 0 1
Epilepsy, childhood absence, susceptibility to, 6 0 1 0 1
Epileptic encephalopathy, infantile or early childhood, 2 0 1 0 1
Familial hemophagocytic lymphohistiocytosis 2 1 0 0 1
Generalized epilepsy with febrile seizures plus, type 2 0 1 0 1
Generalized epilepsy with febrile seizures plus, type 9 0 1 0 1
Hereditary spastic paraplegia 30 0 1 0 1
Immunodeficiency 75 0 1 0 1
Inflammatory bowel disease 28 1 0 0 1
Intellectual developmental disorder with seizures and language delay 0 1 0 1
Intellectual disability, autosomal dominant 1 0 1 0 1
Intellectual disability, autosomal dominant 13 0 1 0 1
Intellectual disability, autosomal dominant 22 0 1 0 1
Intellectual disability, autosomal dominant 6 0 1 0 1
Lissencephaly due to LIS1 mutation 0 1 0 1
Macrocephaly-autism syndrome 0 1 0 1
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 0 1 0 1
Myoclonic-astatic epilepsy 0 1 0 1
Neurodevelopmental delay 0 1 0 1
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures 0 1 0 1
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 0 1 0 1
Phelan-McDermid syndrome 1 0 0 1
Rett syndrome 0 1 0 1
SIN3A-related intellectual disability syndrome due to a point mutation 0 1 0 1
Tuberous sclerosis 2 1 0 0 1
VEXAS syndrome 1 0 0 1
Weiss-kruszka syndrome 1 0 0 1
X-linked lymphoproliferative disease due to SH2D1A deficiency 1 0 0 1
ZTTK syndrome 0 1 0 1

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